Risultati della ricerca - Lamont, Phillipa

Clinical utility gene card for: Laing distal myopathy di Lamont, Phillipa, Wallefeld, William, Davis, Mark, Udd, Bjarne, Laing, Nigel

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Clinical utility gene card for: Nemaline myopathy di Nowak, Kristen J, Davis, Mark R, Wallgren-Pettersson, Carina, Lamont, Phillipa J, Laing, Nigel G

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Isolation of Live Leukocytes from Human Inflammatory Muscles di Coudert, Jerome D., McLeish, Emily, Sooda, Anuradha, Slater, Nataliya, Beer, Kelly, Paramalingam, Shereen, Lamont, Phillipa J., Needham, Merrilee

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STRetch: detecting and discovering pathogenic short tandem repeat expansions di Dashnow, Harriet, Lek, Monkol, Phipson, Belinda, Halman, Andreas, Sadedin, Simon, Lonsdale, Andrew, Davis, Mark, Lamont, Phillipa, Clayton, Joshua S., Laing, Nigel G., MacArthur, Daniel G., Oshlack, Alicia

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Respiratory chain complex I deficiency caused by mitochondrial DNA mutations di Swalwell, Helen, Kirby, Denise M, Blakely, Emma L, Mitchell, Anna, Salemi, Renato, Sugiana, Canny, Compton, Alison G, Tucker, Elena J, Ke, Bi-Xia, Lamont, Phillipa J, Turnbull, Douglass M, McFarland, Robert, Taylor, Robert W, Thorburn, David R

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Collagen VI Glycine Mutations: Perturbed Assembly and a Spectrum of Clinical Severity di Pace, Rishika A., Peat, Rachel A., Baker, Naomi L., Zamurs, Laura, Mörgelin, Matthias, Irving, Melita, Adams, Naomi E., Bateman, John F., Mowat, David, Smith, Nicholas J. C., Lamont, Phillipa J., Moore, Steven A., Mathews, Katherine D., North, Kathryn N., Lamandé, Shireen R.

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Rehabilitation for ataxia study: protocol for a randomised controlled trial of an outpatient and supported home-based physiotherapy programme for people with hereditary cerebellar... di Milne, Sarah C, Corben, Louise A, Roberts, Melissa, Szmulewicz, David, Burns, J, Grobler, Anneke C, Williams, Shannon, Chua, Jillian, Liang, Christina, Lamont, Phillipa J, Grootendorst, Alison C, Massey, Libby, Sue, Carolyn, Dalziel, Kim, LaGrappe, Desiree, Willis, Liz, Freijah, Aleka, Gerken, Paul, Delatycki, Martin B

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Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1) di Meredith, Christopher, Herrmann, Ralf, Parry, Cheryl, Liyanage, Khema, Dye, Danielle E., Durling, Hayley J., Duff, Rachael M., Beckman, Kaye, de Visser, Marianne, van der Graaff, Maaike M., Hedera, Peter, Fink, John K., Petty, Elizabeth M., Lamont, Phillipa, Fabian, Vicki, Bridges, Leslie, Voit, Thomas, Mastaglia, Frank L., Laing, Nigel G.

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Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience di Beecroft, Sarah J., Yau, Kyle S., Allcock, Richard J. N., Mina, Kym, Gooding, Rebecca, Faiz, Fathimath, Atkinson, Vanessa J., Wise, Cheryl, Sivadorai, Padma, Trajanoski, Daniel, Kresoje, Nina, Ong, Royston, Duff, Rachael M., Cabrera‐Serrano, Macarena, Nowak, Kristen J., Pachter, Nicholas, Ravenscroft, Gianina, Lamont, Phillipa J., Davis, Mark R., Laing, Nigel G.

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A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families di Scriba, Carolin K, Beecroft, Sarah J, Clayton, Joshua S, Cortese, Andrea, Sullivan, Roisin, Yau, Wai Yan, Dominik, Natalia, Rodrigues, Miriam, Walker, Elizabeth, Dyer, Zoe, Wu, Teddy Y, Davis, Mark R, Chandler, David C, Weisburd, Ben, Houlden, Henry, Reilly, Mary M, Laing, Nigel G, Lamont, Phillipa J, Roxburgh, Richard H, Ravenscroft, Gianina

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Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores di Sambuughin, Nyamkhishig, Yau, Kyle S., Olivé, Montse, Duff, Rachael M., Bayarsaikhan, Munkhuu, Lu, Shajia, Gonzalez-Mera, Laura, Sivadorai, Padma, Nowak, Kristen J., Ravenscroft, Gianina, Mastaglia, Frank L., North, Kathryn N., Ilkovski, Biljana, Kremer, Hannie, Lammens, Martin, van Engelen, Baziel G.M., Fabian, Vicki, Lamont, Phillipa, Davis, Mark R., Laing, Nigel G., Goldfarb, Lev G.

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Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores di Sambuughin, Nyamkhishig, Yau, Kyle S., Olivé, Montse, Duff, Rachael M., Bayarsaikhan, Munkhuu, Lu, Shajia, Gonzalez-Mera, Laura, Sivadorai, Padma, Nowak, Kristen J., Ravenscroft, Gianina, Mastaglia, Frank L., North, Kathryn N., Ilkovski, Biljana, Kremer, Hannie, Lammens, Martin, van Engelen, Baziel G.M., Fabian, Vicki, Lamont, Phillipa, Davis, Mark R., Laing, Nigel G., Goldfarb, Lev G.

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Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics. di Ravenscroft, Gianina, Clayton, Joshua S, Faiz, Fathimath, Sivadorai, Padma, Milnes, Di, Cincotta, Rob, Moon, Phillip, Kamien, Ben, Edwards, Matt, Delatycki, Martin, Lamont, Phillipa J, Chan, Sophelia HS, Colley, Alison, Ma, Alan, Collins, Felicity, Hennington, Lucinda, Zhao, Teresa, McGillivray, George, Ghedia, Sondhya, Chao, Katherine, O’Donnell-Luria, Anne, Laing, Nigel G, Davis, Mark R

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NOVEL MUTATIONS WIDEN THE PHENOTYPIC SPECTRUM OF SLOW SKELETAL/β-CARDIAC MYOSIN (MYH7) DISTAL MYOPATHY di Lamont, Phillipa J., Wallefeld, William, Hilton-Jones, David, Udd, Bjarne, Argov, Zohar, Barboi, Alexandru C., Bonneman, Carsten, Boycott, Kym M., Bushby, Kate, Connolly, Anne M., Davies, Nicholas, Beggs, Alan H., Cox, Gerald F., Dastgir, Jahannaz, DeChene, Elizabeth T., Gooding, Rebecca, Jungbluth, Heinz, Muelas, Nuria, Palmio, Johanna, Penttilä, Sini, Schmedding, Eric, Suominen, Tiina, Straub, Volker, Staples, Christopher, Van den Bergh, Peter Y.K., Vilchez, Juan J., Wagner, Kathryn R., Wheeler, Patricia G., Wraige, Elizabeth, Laing, Nigel G.

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Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2 di Lassuthova, Petra, Rebelo, Adriana P., Ravenscroft, Gianina, Lamont, Phillipa J., Davis, Mark R., Manganelli, Fiore, Feely, Shawna M., Bacon, Chelsea, Brožková, Dana Šafka, Haberlova, Jana, Mazanec, Radim, Tao, Feifei, Saghira, Cima, Abreu, Lisa, Courel, Steve, Powell, Eric, Buglo, Elena, Bis, Dana M., Baxter, Megan F., Ong, Royston W., Marns, Lorna, Lee, Yi-Chung, Bai, Yunhong, Isom, Daniel G., Barro-Soria, René, Chung, Ki W., Scherer, Steven S., Larsson, H. Peter, Laing, Nigel G., Choi, Byung-Ok, Seeman, Pavel, Shy, Michael E., Santoro, Lucio, Zuchner, Stephan

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Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion di Cortese, Andrea, Tozza, Stefano, Yau, Wai Yan, Rossi, Salvatore, Beecroft, Sarah J, Jaunmuktane, Zane, Dyer, Zoe, Ravenscroft, Gianina, Lamont, Phillipa J, Mossman, Stuart, Chancellor, Andrew, Maisonobe, Thierry, Pereon, Yann, Cauquil, Cecile, Colnaghi, Silvia, Mallucci, Giulia, Curro, Riccardo, Tomaselli, Pedro J, Thomas-Black, Gilbert, Sullivan, Roisin, Efthymiou, Stephanie, Rossor, Alexander M, Laurá, Matilde, Pipis, Menelaos, Horga, Alejandro, Polke, James, Kaski, Diego, Horvath, Rita, Chinnery, Patrick F, Marques, Wilson, Tassorelli, Cristina, Devigili, Grazia, Leonardis, Lea, Wood, Nick W, Bronstein, Adolfo, Giunti, Paola, Züchner, Stephan, Stojkovic, Tanya, Laing, Nigel, Roxburgh, Richard H, Houlden, Henry, Reilly, Mary M

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The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME di Senderek, Jan, Lassuthova, Petra, Kabzińska, Dagmara, Abreu, Lisa, Baets, Jonathan, Beetz, Christian, Braathen, Geir J., Brenner, David, Dalton, Joline, Dankwa, Lois, Deconinck, Tine, De Jonghe, Peter, Dräger, Bianca, Eggermann, Katja, Ellis, Melina, Fischer, Carina, Stojkovic, Tanya, Herrmann, David N., Horvath, Rita, Høyer, Helle, Iglseder, Stephan, Kennerson, Marina, Kinslechner, Katharina, Kohler, Jennefer N., Kurth, Ingo, Laing, Nigel G., Lamont, Phillipa J., Wolfgang N., Löscher, Ludolph, Albert, Marques, Wilson, Nicholson, Garth, Ong, Royston, Petri, Susanne, Ravenscroft, Gianina, Rebelo, Adriana, Ricci, Giulia, Rudnik-Schöneborn, Sabine, Schirmacher, Anja, Schlotter-Weigel, Beate, Schoels, Ludger, Schüle, Rebecca, Synofzik, Matthis, Francou, Bruno, Strom, Tim M., Wagner, Johannes, Walk, David, Wanschitz, Julia, Weinmann, Daniela, Weishaupt, Jochen, Wiessner, Manuela, Windhager, Reinhard, Young, Peter, Züchner, Stephan, Toegel, Stefan, Seeman, Pavel, Kochański, Andrzej, Auer-Grumbach, Michaela

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Congenital Titinopathy: Comprehensive characterization and pathogenic insights di Oates, Emily C., Jones, Kristi J., Donkervoort, Sandra, Charlton, Amanda, Brammah, Susan, Smith, John E., Ware, James S., Yau, Kyle S., Swanson, Lindsay C., Whiffin, Nicola, Peduto, Anthony J., Bournazos, Adam, Waddell, Leigh B., Farrar, Michelle A., Sampaio, Hugo A., Teoh, Hooi Ling, Lamont, Phillipa J., Mowat, David, Fitzsimons, Robin B., Corbett, Alastair J., Ryan, Monique M., O'Grady, Gina L., Sandaradura, Sarah A., Ghaoui, Roula, Joshi, Himanshu, Marshall, Jamie L., Nolan, Melinda A., Kaur, Simranpreet, Punetha, Jaya, Töpf, Ana, Harris, Elizabeth, Bakshi, Madhura, Genetti, Casie A., Marttila, Minttu, Werlauff, Ulla, Streichenberger, Nathalie, Pestronk, Alan, Mazanti, Ingrid, Pinner, Jason R., Vuillerot, Carole, Grosmann, Carla, Camacho, Ana, Mohassel, Payam, Leach, Meganne E., Foley, A. Reghan, Bharucha‐Goebel, Diana, Collins, James, Connolly, Anne M., Gilbreath, Heather R., Iannaccone, Susan T., Castro, Diana, Cummings, Beryl B., Webster, Richard I., Lazaro, Leïla, Vissing, John, Coppens, Sandra, Deconinck, Nicolas, Luk, Ho‐Ming, Thomas, Neil H., Foulds, Nicola C., Illingworth, Marjorie A., Ellard, Sian, McLean, Catriona A., Phadke, Rahul, Ravenscroft, Gianina, Witting, Nanna, Hackman, Peter, Richard, Isabelle, Cooper, Sandra T., Kamsteeg, Erik‐Jan, Hoffman, Eric P., Bushby, Kate, Straub, Volker, Udd, Bjarne, Ferreiro, Ana, North, Kathryn N., Clarke, Nigel F., Lek, Monkol, Beggs, Alan H., Bönnemann, Carsten G., MacArthur, Daniel G., Granzier, Henk, Davis, Mark R., Laing, Nigel G.

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